CHAPTER 21

Gender Dysphoria

Judith V. Becker, Ph.D.

Andrew Perkins, M.A.

Gender and sexuality are core aspects of the human experience. Consequently, medical students and students of psychiatry should be informed and conversant about such issues as normative sexual development, gender roles, gender identity, and sexual orientation. Given the complexity of this area, it is important to start with several definitions. Gender identity is an individual's perception and self-awareness of being male or female. Gender role is the behavior (usually culturally defined) in which an individual engages that identifies him or her to others as being male or female. Sexual orientation "refers to erotic attraction to males, females, or both" (American Psychiatric Association 2000a, p. 535). Table 21-1 provides definitions of core concepts relevant to this chapter's topic.

This chapter focuses on gender dysphoria in children, adolescents, and adults. It is important when working with individuals and families struggling with issues related to gender and sexuality to have an understanding of the issues they face, to demonstrate sensitivity, and to be aware of the most recent research on the topic. Research in the area of gender dysphoria continues to evolve, and even the terminology has changed dramatically over time. In the past this diagnosis was referred to as transsexualism and then, as recently as the last edition of this text, as gender identity disorder (GID). In the current version of DSM, the diagnosis has been renamed gender dysphoria. Because gender dysphoria is rare, there is a lack of the large-scale epidemiological studies, controlled treatment studies, and long-term follow-up studies that have been available for other DSM diagnoses, and readers should keep that fact in mind in reading this chapter.

Gender and Sexual Differentiation

The genetic sex of an individual is determined at conception, but development from that point on is influenced by many factors. For the first few weeks of gestation, the gonads are undifferentiated. If the Y chromosome is present in the embryo, the gonads will differentiate into testes. A substance referred to as the SRY antigen is responsible for this transformation. If the Y chromosome or SRY antigen is not present in the developing embryo, the gonads will develop into ovaries.

Table 21-1. Definitions of core concepts

Term Definition

Disorder of sex development

"Congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical" (Hughes et al. 2006, p. 149). These conditions have also collectively been called intersex, pseudohermaphroditism, and hermaphroditism. The terms variations of sex development and differences of sex development have also been suggested as alternatives to disorder (Diamond 2009).

Gender

The socially constructed roles, behaviors, activities, and attributes that a given society considers appropriate for boys and men or girls and women. These influence the ways that people act, interact, and feel about themselves. While aspects of biological sex are similar across different cultures, aspects of gender may differ (American Psychological Association 2012, p. 1).

Gender identity

A person's internal sense of being male, female, or something else (American Psychological Association 2012, p. 1).

Gender expression

The way in which a person acts to communicate gender within a given culture; for example, in terms of clothing, communication patterns, and interests. A person's gender expression may or may not be consistent with socially prescribed gender roles, and may or may not reflect his or her gender identity (American Psychological Association 2008, p. 28).

Sex

A person's biological status, typically categorized as male, female, or intersex (i.e., atypical combinations of features that usually distinguish male from female). There are a number of indicators of biological sex, including sex chromosomes, gonads, internal reproductive organs, and external genitalia (American Psychological Association 2012, p. 1).

Sexual orientation

An enduring pattern of emotional, romantic, and/or sexual attractions to men, women, or both sexes. Sexual orientation also refers to a person's sense of identity based on those attractions, related behaviors, and membership in a community of others who share those attractions. Research over several decades has demonstrated that sexual orientation ranges along a continuum, from exclusive attraction to the other sex to exclusive attraction to the same sex. However, sexual orientation is usually discussed in terms of three categories: heterosexual (having emotional, romantic, or sexual attractions to members of the other sex), gay/lesbian (having emotional, romantic, or sexual attractions to members of one's own sex), and bisexual (having emotional, romantic, or sexual attractions to both men and women). Sexual orientation is distinct from other components of sex and gender, including biological sex (the anatomical, physiological, and genetic characteristics associated with being male or female), gender identity (the psychological sense of being male or female), and social gender role (the cultural norms that define feminine and masculine behavior) (American Psychological Association 2008).

Transgender

An umbrella term for persons whose gender identity, gender expression, or behavior does not conform to that typically associated with the sex to which they were assigned at birth (American Psychological Association 2011).

Like the gonads, the internal and external genital structures are initially undifferentiated in the fetus. If the gonads differentiate into testes, fetal androgen (i.e., testosterone) is secreted, and these structures develop into male genitalia (epididymis, vas deferens, ejaculatory ducts, penis, and scrotum). In the absence of fetal androgen, these structures develop into female genitalia (fallopian tubes, uterus, clitoris, and vagina). It is important to note that the development of genitalia in utero depends on the presence or absence of fetal androgen, from whatever source.

There can be a number of chromosomal differences that may or may not influence sexual differentiation and the expression of gender over the course of a lifetime. Individuals with these differences have in the past been called "inter-sex" as a group, and many individuals still identify using this moniker. However, recently the more common term in the literature is disorder of sex development (which has been added as a specifier in the new diagnostic criteria). Most of these sex chromosome and hormonal disorders can be quite rare (Blackless et al. 2000). If fetal androgen is present in a genetically determined female (e.g., adrenal hyperplasia), male genitalia will develop, even in the presence of ovaries, and the child will be born with either ambiguous or male genitals. Likewise, if fetal androgen is missing in a genetically determined male (e.g., enzyme deficiency) or androgen receptors are defective (e.g., testicular feminization), female genitalia will develop even though the individual has the Y chromosome and testes.

Specifically, Cohen-Kettenis (2005) reviewed studies on gender identity outcome in individuals with 5α-reductase-2 deficiency and 17β-hydroxysteroid dehydrogenase-3 deficiency and concluded that "the number of gender role changes reported in the literature is considerable and certainly higher than in other intersex conditions" (p. 407). Cohen-Kettenis posited that factors that may determine whether those individuals with these conditions raised as girls will make the switch after puberty to a male gender identity include a biological factor, such as "the severity of the mutation in terms of the in vitro enzyme production deficiency"; cultural factors; environmental factors; and the individuals' reactions to their genital appearance (p. 407).

Other differences may involve the addition or subtraction of sex chromosomes. For example, Klinefelter's syndrome is the result of an extra X chromosome in an otherwise chromosomally male individual (XXY). As a result, the individual will present with typical male internal reproductive structures, but smaller than average testes and penis, sterility, and some feminized secondary sexual characteristics, mainly in regard to the distribution of body fat. Although most individuals with Klinefelter's syndrome will identify and be identified as male, these individuals do tend to have a higher-than-average incidence of gender issues (Mandoki et al. 1991). These conditions are rare and do not always result in struggles with gender or symptoms of gender dysphoria; however, it is important to be aware of the conditions as well as the issues associated with them, and particularly with the changes in the DSM diagnostic criteria (discussed further in the next section, "Gender Dysphoria").

Prenatal hormones certainly play a role in the differentiation of the mammalian brain (Hines 2011). However, their exact effect on psychosexual development in humans has not been established. Although prenatal hormones may contribute to the development of gender role behaviors, their effect on that development is still debated. In fact, some researchers have proposed that hormones have little or no effect on sexual orientation (Bancroft 1994; Byne and Parsons 1993). Research suggests that at least some level of connection exists between prenatal hormones and sex-typed behaviors and interests (Berenbaum and Beltz 2011; Cohen-Bendahan et al. 2005), and possibly between prenatal hormones and gender identity (Berenbaum and Bailey 2003; Ehrhardt and Meyer-Bahlburg 1981; Meyer-Bahlburg et al. 2004).

Gender identity appears to develop in the early years of life and generally is established by age 3 years. Gender identity seems to depend on a variety of biological, social, and cultural factors. For a long period of time, professionals and academics believed that the sex in which an individual is reared, regardless of biological factors, was responsible for an individual's gender identity. The evidence for this came from studies of intersex children (those born with genitalia that were ambiguous or opposite from their genetic sex) (Money and Ehrhardt 1974). It was once believed that these children would develop gender identity consistent with the gender assigned to them at birth as long as their parents were unambiguous about the child's sex and surgical and hormonal corrections were made. Thus, the idea was that a child with testicular feminization would grow up with a female gender identity, despite having testes, if assigned and raised as a girl and the aforementioned conditions were met. Similarly, it was expected that a genetic female with ambiguous genitalia caused by congenital adrenal hyperplasia would develop a male gender identity if reared as a boy but would develop a female gender identity if reared as a girl.

More recent studies, however, have provided strong evidence that this is not the case. Although a multitude of factors certainly may contribute to the specific development and expression of one's gender identity, biology has been demonstrated to be one of the primary factors (Ehrhardt and Meyer-Bahlburg 1981). As early as 1965 Diamond asserted that "the evidence and arguments ... show, primarily owing to prenatal genic and hormonal influences, human beings are definitely predisposed at birth to a male or female gender orientation" (p. 167).

Gender identity, once it is firmly established, is generally resistant to change. Although biology certainly has a strong role in the development of gender identity, other factors have been put forth as influencing its development. According to a learning theory model, gender identity begins to develop when the child imitates or identifies with same-sex models. The child is then reinforced for this identification and for engaging in "appropriate" sex-role behaviors. Psychoanalytic authors have stressed the emergence of GIDs during the pre-oedipal period, as well as the importance of attachment and object relations to the development of gender identity (Zucker and Bradley 1995). Other psychoanalytic authors have emphasized that the mothers of boys with GID have experienced a high rate of adverse events such as sexual and physical assaults, the death of a child, or husbands' extramarital affairs during the sensitive period of gender identity formation (as reported in Zucker and Bradley 1995).

Gender Dysphoria

GIDs were first introduced in DSM-III (American Psychiatric Association 1980), where they were included in the section on psychosexual disorders. In DSM-IH-R (American Psychiatric Association 1987), the GIDs were moved to the section "Disorders Usually First Evident in Infancy, Childhood, or Adolescence." Additionally, in DSM-III-R, GID of adulthood, nontranssexual type, was added. Up to this point, the essential features of the principal diagnostic categories in the subclass transsexualism were a persistent sense of discomfort and inappropriateness about one's anatomical sex and a persistent wish to be rid of one's genitals and to live as a member of the other sex.

The term transsexualism was eliminated in DSM-IV (American Psychiatric Association 1994). A single diagnostic term, gender identity disorder, was introduced to apply to children, adolescents, and adults. The disorder was also placed in the section "Sexual and Gender Identity Disorders." The term remained the same in DSM-IV-TR (American Psychiatric Association 2000a). The elimination of the term transsexualism alters the sense that the diagnosis exists as a single disorder and presents it conceptually as a spectrum of disorders. However, the term transsexualism still appears to have described appropriately what, up until now, has been referred to as gender identity disorder of adulthood.

Although not considered an actual diagnosis in DSM-IV-TR, gender dysphoria was often used by clinicians and researchers to characterize a person's sense of discomfort or unease about his or her status as male or female (Zucker et al. 1997a). Gender dysphoria was further classified by researchers as primary or secondary as it relates to transsexualism (Person and Ovesey 1974). Primary transsexuals were considered to have a lifelong, profound disturbance of core gender identity. They had histories of crossdressing as children but never were aroused by wearing opposite-sex clothes (such as in transvestic fetishism). They usually had a clear history of engaging in opposite-sex gender-role behaviors. Secondary transsexuals could also have had a long history of gender identity confusion; however, in these individuals, the identity disturbance followed other cross-gender behavior such as transvestism or effeminate homosexuality.

In DSM-5 (American Psychiatric Association 2013), gender dysphoria (Box 21-1) has been elevated to the level of being the primary diagnosis. Furthermore, the diagnosis has been separated from the sexual disorders into its own category, which these authors feel is most appropriate. It has been divided into gender dysphoria in children and gender dysphoria in adolescents and adults and is subtyped as being present with a disorder of sex development. The adolescent/adult category has the further specifier of posttransition to indicate whether an individual is living full-time in the desired gender (with or without legalization of gender change) and has undergone (or is preparing to undergo) at least one cross-sex medical procedure or treatment regimen—namely, regular cross-sex hormone treatment or gender reassignment surgery confirming the desired gender. The reasons for this change were explicated fully on the DSM-5 Web site (American Psychiatric Association 2012). To summarize, the DSM-5 Sexual and Gender Identity Disorders Work Group was responding to criticisms that the DSM IV-TR term gender identity disorder was stigmatizing (particularly use of the word disorder). Initially, the work group considered the term gender incongruence, but there were concerns from the professional community that the term could be "easily misread as applying to people with gender-atypical behaviors who had no gender-identity problem." Gender dysphoria was recommended as a more appropriate term because it has a long history in the sexology literature, and because the work group could use the term "without presupposing the existence of acute or inherent distress at the time of the diagnosis" (American Psychiatric Association 2012). (When discussing research in this text, we will use the terminology utilized by the researchers being referenced; in other contexts we will use the DSM-5 terminology.)

302.6 (F64.2)

Box 21-1. DSM-5 Criteria for Gender Dysphoria

Gender Dysphoria in Children

315.39 (F80.0)

  1. A marked incongruence between one's experienced/expressed gender and assigned gender, of at least 6 months' duration, as manifested by at least six of the following (one of which must be Criterion A1):
    1. A strong desire to be of the other gender or an insistence that one is the other gender (or some alternative gender different from one's assigned gender).
    2. In boys (assigned gender), a strong preference for cross-dressing or simulating female attire; or in girls (assigned gender), a strong preference for wearing only typical masculine clothing and a strong resistance to the wearing of typical feminine clothing.
    3. A strong preference for cross-gender roles in make-believe play or fantasy play.
    4. A strong preference for the toys, games, or activities stereotypically used or engaged in by the other gender.
    5. A strong preference for playmates of the other gender.
    6. In boys (assigned gender), a strong rejection of typically masculine toys, games, and activities and a strong avoidance of rough-and-tumble play; or in girls (assigned gender), a strong rejection of typically feminine toys, games, and activities.
    7. A strong dislike of one's sexual anatomy.
    8. A strong desire for the primary and/or secondary sex characteristics that match one's experienced gender.
  2. The condition is associated with clinically significant distress or impairment in social, school, or other important areas of functioning.

Specify if:

With a disorder of sex development

Gender Dysphoria in Adolescents and Adults

302.85 (F64.1)

  1. A marked incongruence between one's experienced/expressed gender and assigned gender, of at least 6 months' duration, as manifested by at least two of the following:
    1. A marked incongruence between one's experienced/expressed gender and primary and/or secondary sex characteristics (or in young adolescents, the anticipated secondary sex characteristics).
    2. A strong desire to be rid of one's primary and/or secondary sex characteristics because of a marked incongruence with one's experienced/expressed gender (or in young adolescents, a desire to prevent the development of the anticipated secondary sex characteristics).
    3. A strong desire for the primary and/or secondary sex characteristics of the other gender.
    4. A strong desire to be of the other gender (or some alternative gender different from one's assigned gender).
    5. A strong desire to be treated as the other gender (or some alternative gender different from one's assigned gender).
    6. A strong conviction that one has the typical feelings and reactions of the other gender (or some alternative gender different from one's assigned gender).
  2. The condition is associated with clinically significant distress or impairment in social, occupational, or other important areas of functioning.

Specify if:

With a disorder of sex development

Specify if:

Posttransition

NOTICE. Criteria set above contains only the diagnostic criteria and specifiers; refer to DSM-5 for the full criteria set, including specifier descriptions and coding and reporting procedures.

In DSM-5 the major fact of gender dysphoria is an incongruence between the experienced/expressed gender and the assigned gender (see Box 21-1). The diagnosis can be given if the person has a concurrent physical condition, such as partial androgen insensitivity syndrome or congenital adrenal hyperplasia, with a specifier of "with a disorder of sex development." Also, as with many other DSM-5 diagnoses, there must be evidence of clinically significant distress or impairment (American Psychiatric Association 2013).

Epidemiology

Children

Zucker and Lawrence (2009) report that "formal epidemiological studies on the incidence and prevalence of gender identity disorder have not been conducted" (p. 8) and, therefore, that it is difficult to estimate the prevalence of gender dysphoria in children. Consequently, the existing information typically comes from specialty clinics, a situation that biases the resulting data. One study examining children referred to a specialty clinic for GID from 1978 to 1995 concluded a boy-to-girl sex ratio of 6.6:1 (Zucker et al. 1997b). Available data from "parent-report questionnaires show that the frequent wish to be of the other sex is quite low but that periodic cross-gender behavior is more common" (Zucker and Lawrence 2009, p. 8). A large-scale Dutch study involving 23,393 twins at ages 7 and 10 years found that manifesting behavior like the opposite sex was more common than manifesting gender dysphoria per se (van Beijsterveldt et al. 2006 as cited in Zucker and Lawrence 2009). Van Beijsterveldt and colleagues reported that the proportion of children who wanted to be of the opposite sex ranged from 0.9% to 1.7% of the sample.

Adults

As with the study of children and adolescents, no large-scale epidemiological studies have been done of the incidence and prevalence of adult gender dysphoria. Most of the information that is available for adults, as for children and adolescents, comes from specialty clinics. Despite a lack of recent epidemiological studies to provide prevalence data, GID of adulthood is still thought to be rare, with prior estimates of 30,000 cases worldwide (Lothstein 1980). The American Psychiatric Association (2000a) reported that approximately 1 in 30,000 adult males and 1 in 100,000 females seek sex-reassignment surgery. More recent studies in Sweden estimate that 1 in 12,000 females and 1 in 30,000 males seek such surgery (Olsson and Moller 2003). A more detailed discussion of prevalence and incidence can be found in Zucker and Lawrence (2009). Cases have been described throughout history, but only in the past few decades has scientific and media attention focused on this phenomenon, and a few specialized gender identity clinics have been developed. Sex reassignment—that is, a change in physical appearance (usually by hormonal and surgical means) to correspond with self-perceived gender—may be most commonly requested by transsexual individuals; however, not all individuals who seek sex reassignment are transsexual. Cross-gender wishes may be demonstrated in transvestism (i.e., those who wear opposite-gender clothes for erotic purposes) or effeminate homosexuality in men.

Reports suggest that three to four times as many males as females apply for sex reassignment, but that approximately equal numbers of males and females are reassigned, although this gap may be closing (Meyer 1982; Olsson and Moller 2003). Virtually all of the women who apply have a sexual orientation toward women, although some studies have indicated that this may not always be the case (Chivers and Bailey 2000). Male transsexuals are predominantly homosexual in orientation, but approximately 25% are sexually attracted to women. Some of these "heterosexual" transsexuals enter into "lesbian" relationships after they are reassigned as females.

Comorbidity

Children

Anxiety disorders are often associated with GID in childhood (Coates and Person 1985; Zucker et al. 1996). Wallien et al. (2007a) examined psychiatric comorbidity in a group of 120 Dutch children referred to a gender identity clinic and 47 Dutch children referred to an attention-deficit/hyperactivity disorder (ADHD) clinic. Fifty-two percent of children with GID had one or more other diagnoses (such as mood disorders or disruptive behavior disorders), whereas those in the ADHD comparison group were more likely to be diagnosed with an internalizing or externalizing disorder. Additionally, 31% of individuals in the GID group were diagnosed with an anxiety disorder. A study by Wallien et al. (2007b) utilized physiological measures and found that children with GID had more indicators of anxiety than did matched controls. Although this increased anxiety is well documented, some researchers have suggested that it maybe adaptive (VanderLaan et al. 2010).

It is worth noting, however, that some writers have suggested that whatever comorbidities do exist in individuals diagnosed with gender dysphoria may be almost entirely explained by the social prejudice and stigma associated with cross-gender behavior (Nuttbrock et al. 2010; Zucker et al. 2002).

Adults

Mixed reports regarding comorbidity in adults evidencing gender dysphoria are most likely due in part to the lack of large epidemiological studies examining gender issues. Most of the studies examining psychiatric comorbidity suffer from small, highly select samples; differing diagnostic categorization; diverse methods of assessment; and reliance on clinical interview or document review. For this reason, the percentage of individuals diagnosed with GID and another mental disorder has varied widely, from 4% to 70.3%. In one study that is still regularly cited, Cole et al. (1997) examined the charts of biological males and biological females with self-reported gender dysphoria and found that 28% (n=122) of the overall sample reported substance abuse problems. In addition, 6% (n=18) of the male subjects and 4% (n=5) of the female subjects had any other mental disorder diagnosis, and 4% (n=12) of the male subjects and 3% (n=4) of the female subjects had any other personality disorder diagnosis. Additionally, 12% (n=38) of the males and 21% (n=25) of the females reported suicide attempts. In contrast, Levine (1980) found that 92% (n=35) of biological males in their sample and 58% (n=7) of biological females had a co-morbid psychiatric diagnosis. A majority (74%; n=29) of the biological males also evidenced some form of character disorder, and 42% (n=5) of the women evidenced some form of character disorder. Bodlund et al. (1993) examined personality disorders in 19 men and women diagnosed as transsexuals. At the time, these men and women represented the entire population of individuals in the process of changing their sex in all of Sweden. The results indicated that 53% (n=10) of the patients had another mental disorder diagnosis and 37% (n=7) had at least one personality disorder.

More recent research conducted outside the United States and Canada has also garnered mixed results regarding comorbidity. A study from Japan indicated that the current psychiatric comorbidity of a sample of clients diagnosed with GID was 19.1% (n=44) for male-to-female (MTF) patients and 12% (n=42) for female-to-male (FTM) patients (Hoshiai et al. 2010). The lifetime prevalence of suicidal ideation and self-mutilation was 76.1% and 31.7%, respectively, for MTF patients and 71.9% and 32.7%, respectively, for FTM patients. Hepp et al. (2005) examined 20 biological males and 11 biological females who met criteria for GID (either current or lifetime). Overall, 61.3% of the sample did not meet criteria for a current comorbid DSM-IV mental disorder, and 29% had not met criteria for a lifetime diagnosis. Those who reported a lifetime mental disorder were most likely to meet criteria for substance-related disorders or mood disorders, followed by anxiety disorders. In regard to personality disorders, 41.9% met criteria for an Axis 13 disorder, with Cluster B disorders being the most prevalent. Madeddu et al. (2009) found that 52% (n=26) of their sample of males and females had a personality disorder, with Cluster B personality disorders being the most common (22%), followed by personality disorder not otherwise specified (16%).

Etiology

The exact cause of gender dysphoria is unknown. As noted by Zucker et al. (2012), the development of gender dysphoria is best understood utilizing a multifactorial model that considers biological, psychosocial, social cognitive, psychopathological, and psychodynamic mechanisms. In other words, there are no unequivocal or exhaustive explanations for the development of gender dysphoria. Recent research suggests that biological factors may play a more integral role in the development of gender dysphoria than previously thought.

One possibility in regard to biological theories is that atypical exposure to hormones of the other sex can affect the development of the brain (Bao and Swaab 2011; Dessens et al. 1999; Zhou et al. 1995). It is possible that despite the development of typical genitals, those individuals with gender dysphoria experience sexual differentiation of the brain that matches that of the opposite sex (Berglund et al. 2008; Kruijver et al. 2000; Meyer-Bahlburg 2005). At the very least, there have been identifiable differences in the brains of individuals with gender dysphoria (Luders et al. 2009; Savic and Arver 2011).

Hare et al. (2009) found some evidence for a possible genetic connection to gender dysphoria. In a DNA study of over 100 MTF transsexuals, they found differences in genes related to the production of prenatal testosterone. These differences suggest that MTF transsexuals might have less efficient than average androgen production in utero, possibly contributing to the development of gender dysphoria.

Studies of females with congenital adrenal hyperplasia caused by high levels of androgens prenatally (Collaer and Hines 1995) suggest that there may be a relationship between such disorders and gender identity problems. Some researchers have found decreased levels of testosterone in male transsexuals and abnormally high levels of testosterone in female transsexuals, but the findings have been inconsistent, and the studies from which they were obtained were not well controlled. Tests for H-Y antigen have been found to be negative in male transsexuals and positive in female transsexuals in a high percentage of cases; however, there has been a consistent failure to replicate these findings (Hoenig 1985).

Blanchard (2005) proposed a taxonomic model of gender dysphoria, suggesting that heterosexual, asexual, and bisexual transsexuals were more similar to each other and to transvestites than they were to homosexual transsexuals. Blanchard's model offers the alternative term autogynephilia, which describes a male with "a love of oneself as a woman" (p. 439), as better characterizing such heterosexual transsexuals. This is contrasted with the view of GID as being explained by the "feminine essence" narrative, which suggests that MTF transsexuals have the brain, or internal essence, of a woman despite their chromosomal/gonadal sex or characteristics (Blanchard 2008). This conceptualization of MTF transsexualism has garnered some research support but has come under scrutiny from the transgender community (Cantor 2011; Dreger 2008; Nuttbrock et al. 2011). A controversy erupted when the popular science book The Man Who Would Be Queen was published in 2003 (Bailey 2003). This book outlined a large body of scientific research on GID, specifically focusing on the taxonomic work by Blanchard (2005). Coverage of this debate can be found in Volume 37, Issue 3, of the Archives of Sexual Behavior.

Although GID in children has been posited as being the result of child and family pathology (Zucker and Bradley 1995), family studies have been difficult to carry out given the low incidence of GIDs. To date, no clear increase in familial incidence has been documented.

Learning theory models suggest that gender dysphoria arises from absent or inconsistent reinforcement for identification with same-sex models. Cross-gender identification and behaviors take place, and these are reinforced with either overt or covert approval from the child's caregivers (Bradley and Zucker 1997; Cohen-Kettenis and Gooren 1999). Some examples include parents' indifference to or encouragement of opposite-sex behavior; regular cross-dressing as a young boy by a female; lack of male playmates during a boy's first years of socialization; excessive maternal protection, with inhibition of rough-and-tumble play; and absence of or rejection by an older male early in life (Green 1974).

Assessment and Treatment

In this section, we focus on the assessment, diagnosis, and treatment of gender dysphoria. Readers can find useful and more detailed information in Suggested Readings at the end of the chapter.

Children

Assessment

For the identification and diagnosis of gender dysphoria in children, Zucker et al. (2012) suggested a comprehensive clinical assessment protocol that involves interviews with both parents and children (both alone and together) and psychological testing of the child. This could include IQ testing, measures of attachment, and parent-teacher measures (e.g., the Child Behavior Checklist, Youth Self-Report Form, etc.), to name a few. The Gender Identity Questionnaire for children can also be useful.

Generally speaking, gender dysphoria is seen in a child who perceives himself or herself as being of the opposite sex. However, it is often difficult to separate gender identity from gender role behavior in children. Boys with typical gender identity may play with "girl" dolls, and many girls in our culture are "tomboys" and like rough and contact games. However, in children with gender identity syndrome, there is a repeated pattern of opposite-gender role behavior accompanied by a disturbance in the child's perception of "being" a boy or a girl.

Children with gender dysphoria express a desire to become a member of the opposite gender or some alternative gender different from their assigned gender. Boys may wish to have a vagina and may have a preference for simulating female attire. Girls may wish to have a penis and may simulate a penis with various objects or stand to urinate and may demonstrate a preference for wearing only typical masculine clothing and a strong resistance to wearing typical female clothing. The child also may prefer playmates of the opposite sex, even after most children at the same developmental level have demonstrated a primary preference for playmates of the same sex. This can also extend to preferences for toys, games, or activities of the other gender, as well as a strong rejection of the activities and games typical of their assigned gender. In addition to a strong desire for sex characteristics of their experienced gender, children may also express a strong dislike of their current sexual anatomy. In evaluating a child, it is important not to look solely at behavior; the child must also have a disturbance in sexual/gender identity. As in the evaluation of adults, the clinician should evaluate the child for other psychiatric disorders that are concomitant due to the gender dysphoria (internalizing or externalizing due to social or familial factors).

Course

There are three categories of children who may present to clinicians because of gender issues. The first category includes children whose parents report that they are exhibiting on occasion some crossgender behavior (e.g., occasionally want-mg to dress in clothes of the opposite sex, wanting to play with children of the opposite sex, or not enjoying activities typical of their sex). These children will not be categorically stating that they wish to be a gender different from the one they are identified as, but may simply be exhibiting the type of cross-gender play typical of children, and this may be a cultural concern brought up by the parents. These children do not meet criteria for gender dysphoria and are likely not in need of treatment unless there are other psychiatric or family problems. More likely, the family members who are concerned may be in need of psychoeducation, and the children may be in need of support if they are experiencing any bullying, teasing, or stigmatization.

The second and third categories include children who exhibit gender dysphoric behaviors. For these children, a diagnosis of gender dysphoria may be considered appropriate. For the second category of these children, this diagnosis may cease to be appropriate as they grow older, and the core gender issues may resolve. Longitudinal research with boys who demonstrate GID and a comparison group found that a large proportion of the boys with GID (about 68%) were bisexually or homosexually oriented, whereas none of a demographically matched comparison sample reported a bisexual or homosexual orientation (Green 1985). In a study by Steensma et al. (2011) of 53 children with gender dysphoria at about age 9 years, 29 continued to have gender dysphoria at around age 16. This qualitative study found that generally for those children for whom the dysphoria desisted, their "gender atypical interests did not necessarily evaporate, but they just became more receptive to gender typical interests" (p. 509). The American Psychiatric Association (2000a) reported that "only a very small number of children with Gender Identity Disorder will continue to have symptoms that meet criteria in adolescence or adulthood" and that "by late adolescence or adulthood, about three-quarters of boys who had a childhood history of Gender Identity Disorder report a homosexual or bisexual orientation, but without concurrent Gender Identity Disorder" (pp. 579-580). The proportion of female children with GID who report bisexual or homosexual orientation in adolescence and adulthood is unknown.

For children in the third category, symptoms of gender dysphoria will continue through adolescence and into adulthood and will meet criteria for a diagnosis of gender dysphoria in adulthood as well. Importantly, it is currently impossible to distinguish between those children who will continue to meet criteria for a diagnosis of gender dysphoria in adulthood and those who will not. The next section, on treatment, focuses on these last two categories of children.

Treatment

The American Psychiatric Association Task Force on Treatment of Gender Identity Disorder (Byne et al. 2012) noted the absence of randomized controlled outcome studies of children with GID and children who are gender variant. The authors of the report stated, "the overarching goal of psychotherapeutic treatment for childhood GID is to optimize the psychological adjustment and well-being of the child" (p. 763). They noted, however, that clinicians may differ as to what approach they take in accomplishing this goal. Importantly, the field does not have long-term follow-up studies to indicate what is in the best interests of the child. Consequently, we cannot state definitively whether it is best to work with the child and parents to lessen the gender-atypical behaviors and gender dysphoria through reinforcement of natal-gender behaviors, or to not directly target the gender dysphoria given that most children will cease to exhibit the symptoms. In general, there appear to be several different schools of thought in the approach to the treatment of gender dysphoria in children.

One school of thought is to fully accommodate the gender identity with which the child identifies most and to not view the behaviors as disordered. From this view, children with gender dysphoria who present to a mental health professional are in need of treatment not for gender dysphoria per se, but rather (perhaps) for the social stigma or family discord and their psychological sequelae (internalizing or externalizing problems) that arise from being nonconforming to the behavior of their assigned gender. This treatment typically involves psychoeducation for parents, teachers, peers, and the child; organization of the family structure to support the child; arrangement of peer relationships that are accepting and supportive; and supportive psychotherapy for the child. The mission statement of the TransKids Purple Rainbow Foundation (2011) illustrates this point of view.

A second approach focuses on the desires of the parents and accepts that gender dysphoria itself may be a treatment target. The treatment could be organized around the parents' goal of having the child engage in typical gendered behavior, while also addressing other comorbid psychiatric diagnoses if any are present. Zucker et al. (2012) outlined how one might approach this goal on a case-by-case basis. In general, children are first educated about why they are in therapy. They then receive open-ended individual therapy focusing on their gender dysphoric issues, with the goal of making them feel more comfortable and resolving any conflicts they may have with the behaviors and activities of their assigned gender. Therapy would also focus on the family dynamic and how those factors might contribute to the origin and maintenance of the cross-gender behavior. Individuals who are committed to this mode of treatment indicate that they are attempting to mitigate "social ostracism that can ensue" from the cross-gender behavior, address "the complexities of sex-reassignment surgery and its biomedical treatment ... ," and reduce "family psychopathology and stress, when [they are] present" (p. 390).

Another approach, as described by de Vries and Cohen-Kettenis (2012), "does not directly target the gender dysphoria itself ... [but rather] focuses on its concomitant emotional and behavioral and family problems that may or may not have an impact on the child's gender dysphoria" (p. 307). The treatment follows a family and parent assessment, as well as an extensive psychodiagnostic assessment of the child. The primary goal of the treatment is for the child and family to function optimally while waiting to see whether the child's gender dysphoria will continue into adolescence and adulthood. The authors call this "watchful waiting" (p. 309). This approach is useful because, as mentioned in the preceding subsection, "Course," a majority of children with gender dysphoria will not continue to have gender dysphoria as adults or even adolescents.

Given the lack of controlled studies and the lack of consensus on what is the best treatment, the American Psychiatric Association Task Force makes the following recommendation: "A comprehensive assessment of the child should be conducted utilizing validated assessment instruments for Gender Dysphoria and for cooccurring psychological problems" (Byne et al. 2012, p. 764). Zucker (2005) provided an overview of various measures that pertain to assessing gender identity, gender role, and sexual orientation that have been used in assessment studies of both children and adults with GID and/or children and adults with various physical intersex conditions. Additionally, the child's parents or caregivers need to have their concerns addressed and then be given information regarding the nature of gender dysphoria, its course, and the treatment options. To give informed consent, the parents need to be truly informed of all options and the possible outcomes of all treatment options. Lastly, given that children with gender dysphoria may be stigmatized, bullied, and ostracized, it is important that children be assessed relative to the environment and that efforts be made to educate individuals in that environment.

Adolescents

In working with adolescents with GID, clinicians should bear in mind that if the behavior has persisted from childhood into adolescence, it is likely to persist into adulthood as well; however, they should also recall that the majority of childhood gender dysphoria does not persist into adolescence (Zucker et al. 2012). For adolescents, as for children, de Vries and Co-hen-Kettenis (2012) recommend a thorough assessment, including a thorough psychiatric examination and a screening by an endocrinologist. There is no empirical or even standardized method for determining which of these adolescents will go on to be diagnosed with gender dysphoria as adults, or go on to have sexual reassignment surgery as adults. Ultimately, any decisions need to be made by the clinician, caregivers, and adolescent with informed consent.

With adolescents, as with younger children, interventions may include individual and family therapy. Adolescents also need to learn coping skills to deal with any harassment or ostracism they may experience. In the Standards of Care for the Health of Transsexual, Transgender, and Gender Nonconforming People, the World Professional Association for Transgender Health (2012) indicates that adolescents may be eligible for fully and partially reversible physical interventions. Although physical interventions are not recommended for children with gender dysphoria, they are increasingly considered appropriate as part of the treatment for the adolescent who has persisted with a presentation of gender dysphoria (de Vries et al. 2011; Hembree et al. 2009).

The World Professional Association for Transgender Health (2012) also suggests that physical interventions should only be undertaken following thorough exploration of psychological, family, and social issues. After this exploration, the physical interventions are approached in three categories or stages—completely reversible, partially reversible, and irreversible (surgical procedures)—beginning with the least drastic and proceeding to the next as appropriate, with continuing assessment and psychotherapy before, during, and after each stage.

The completely reversible stage involves delay of puberty with a gonadotropin-releasing hormone (GnRH) agonist, which suppresses testosterone or estrogen production. Other hormones can also be used to delay or stop puberty in male and female adolescents. Studies examining the use of puberty-suppressing regimens have only studied children who were at least age 12 years. Although concern has been raised over the impact of pubertal suppression during adolescence, given that this is a period of brain maturation, there has been no evidence to date of any consequences for brain functioning in humans (Byne et al. 2012). The benefit of the puberty-suppressing regimen is that because it is fully reversible, an adolescent has some time to explore his or her gender-related issues.

The partially reversible stage involves exposing the adolescent to hormones (i.e., androgens or estrogens) that will either masculinize or feminize the body; "some hormone-induced changes may need reconstructive surgery to reverse the effect (e.g., gynecomastia caused by estrogens), while other changes are not reversible (e.g., deepening of the voice caused by testosterone)" (World Professional Association for Transgender Health 2012, p. 18). Finally, the Standards of Care suggests that irreversible changes (surgical procedures) should not be carried out until an individual reaches the legal age required to give consent for medical procedures and has "lived continuously for a year" in the gender role that is congruent with his or her gender identity (World Professional Association for Transgender Health 2012).

It is important during the hormonal treatments (for either suppression of puberty or masculinization/feminization of the body) that youth and family members receive support and any necessary psychological interventions as assessed in the initial and diagnostic process. Adolescence, in general, is or can be a stressful time of development and transition into adulthood. Being an adolescent following an atypical gender and sexual development path has the possibility of increasing these stressors. Any treating physician or mental health professional should be especially sensitive to the needs of these individuals and their family members.

Some parents or caregivers who visit a treatment provider with a child who is exhibiting cross-gender behavior express as their primary concern not the gender dysphoria, but the child's future sexual orientation. In these cases, Zucker et al. (2012) suggest taking a psychoeducational approach with parents, explaining to them the lack of empirical support for influencing children's future sexual orientation by changing their gender behavior in childhood, and also informing them that sexual orientation is not a diagnosable mental disorder. Additionally, both the American Psychological Association (2000) and the American Psychiatric Association (2000b, 2011) have released statements indicating that therapeutic attempts at reorientation or reparative therapy are not appropriate.

Adults

Assessment

Adults who present with gender dysphoria may be seeking guidance from a psychiatrist for a multitude of reasons. Some adults will present with a history of gender dysphoria from childhood, whereas others may present without such a history. Adults are most likely to be seen when they begin to seek assistance in altering their physical bodies to bring them into line with their experienced gender. Some will be seeking hormonal interventions, others surgical, and some both. Not all individuals with gender dysphoria will be interested in sex reassignment surgery.

Individuals who seek assistance with gender issues require careful evaluation by a psychiatrist or psychologist with experience in the management of gender dysphoria. They should undergo a complete psychosexual evaluation, in addition to a thorough psychiatric or psychological examination. Patients with other primary psychiatric diagnoses may present with what appears to be gender dysphoria. Psychotic patients may have delusions centered around their genitalia (e.g., that someone has substituted the incorrect genitals, that God is telling them to change their sex). When the psychosis is treated, the cross-gender wishes usually resolve. Individuals with severe personality disorders, especially borderline personality disorder, can have transient wishes to change gender as part of their overall identity diffusion during times of stress. Effeminate homosexual men may desire to change their sex to be more attractive to men; usually this desire fluctuates with time. Transvestites (described in Chapter 26 of this volume, "Paraphilic Disorders," by Becker et al.) are heterosexual men aroused by wearing female garments. To increase their arousal, they may progress to actually wishing to become a woman; again, however, this wish is usually not continuous over a long period, and their gender identity is male. Adolescents sometimes become gender dysphoric because of developing homosexual feelings that need to be resolved. For each of these patients, psychotherapy is indicated to deal with the appropriate issues leading to their request for sex reassignment.

Treatment

A psychiatrist may play many roles in working with an adult with gender dysphoria. An individual may simply want someone with whom to discuss these issues, or may seek advice about hormonal and surgical treatment; about legal issues; about "coming out" as transsexual with families, friends, and employers; or about identifying transition goals. The American Psychiatric Association Task Force report (Byne et al. 2012) sums up the difficulties experienced by an adult with gender dysphoria as follows: "Persons who come out as transgender, or who transition during the adult years, are usually in the position of balancing the drive to live in a more authentic gender presentation with the needs created by years of living a more gender conforming public and private life" (p. 777).

Most individuals with gender dysphoria have adamant requests for sex reassignment, and many of them are already taking opposite-sex hormones supplied by other physicians. Individuals who decide to continue with transitioning after a thorough clinical assessment should be referred to endocrinologists and surgeons to assist them in planning and carrying out their specific transition goals. Psychotherapy may also be appropriate as a patient continues with a transition plan. Patients may view psychotherapy as a means of discouraging them from surgery. However, because surgery is irreversible, therapy can be helpful in both creating transition goals and providing support and guidance as the transition progresses. The therapist should be careful to base the goals of therapy on what is desired by the patient. These goals should be identified at the beginning of therapy, and the therapist should discuss informed consent. Psychotherapy can play an important role in patients' adjustment to the process of sex reassignment and is often helpful in adjustment following treatment with hormones or surgery.

Sex reassignment is a long process that must be carefully monitored by a variety of professionals. Decisions regarding when to begin the process of transition, what the process will entail, and what the goals of the transition are should be made as part of a collaboration between the patient and all the health care workers involved. For adults, as for adolescents who wish to undergo physical changes in relation to their gender dysphoria, sexual reassignment should most likely proceed in stages, with the least drastic and most reversible changes happening first.

The course of treatment usually begins with the patient living in the world in the cross-gender role before surgical reassignment. The exact nature of the crossgender role will vary from patient to patient, but males typically cross-dress, have electrolysis, and practice female behaviors, whereas women cut their hair and bind or conceal their breasts. They can even change their identity to the opposite gender on official documents and at work. After a period of time, as set by the patient and the team of professionals, and if these measures have been successful and the patient still wishes reassignment, hormone treatment can begin. Estrogens are given to the male patient, resulting in redistribution of body fat in a more "feminine" pattern and enlargement of the breasts. Because this treatment may have medical complications, patients should be followed up closely by a physician. Side effects of estrogen treatment may include deep vein thrombosis, thromboembolic disorders, increased blood pressure, weight gain, impaired glucose tolerance, liver abnormalities, and depression. Testosterone given to the female patient causes redistribution of fat, growth of facial and body hair, enlargement of the clitoris, and deepening of the voice. Unwanted side effects of testosterone treatment include acne, edema secondary to sodium retention, and impairment of liver function.

After a period of time with hormone therapy, the patient may wish to continue to full surgical reassignment. In the MTF patient, this consists of bilateral orchiectomy, penile amputation, and creation of an artificial vagina. FTM patients undergo bilateral mastectomy and optional hysterectomy with removal of ovaries. Efforts to create an artificial penis have met with mixed results thus far; the artificial penis cannot achieve erection, although sensitive tissue from the clitoris can be left intact, leaving open the possibility of erotic feelings and orgasm. There has been some progress in developing methods for creating a penis through mechanical means. That being said, some FTM patients may prefer to focus on mutual body caressing, oral-genital stimulation, the use of prosthetics or other sexual appliances, and other forms of sexual pleasuring that do not necessarily involve having a penis sufficient for vaginal penetration.

Overall, cosmetic and functional results from surgery have been variable in both male and female transsexuals. Post-surgical complications can occur and include the following: for genetic females, chest wall scars and polycystic ovary disease, and for genetic males, urethral stenosis, misdirected urinary streams, vaginal strictures, and rectovaginal fistulas.

Surgical reassignment to the opposite sex has been the most widely used and studied treatment modality for adults with gender dysphoria or GID. Green and Fleming (1990) reviewed the literature written from 1979 through 1989 on both MTF and FTM postoperative transsexuals. Only 11 follow-up studies were located in the literature. These authors concluded that preoperative factors that were indicative of a favorable outcome included an absence of psychosis, as well as mental and emotional stability shown prior to the surgery; a successful adaptation to the desired gender for at least 1 year; an understanding of the consequences and limitations of the surgery; and the seeking of preoperative psychotherapy. Data from the report indicated that outcomes were considered satisfactory for 97% of the FTM transsexuals and for 87% of the MTF transsexuals.

Smith et al. (2001) conducted a prospective follow-up study in a group of adolescents up through adulthood. The sample included 20 adolescent transsexuals who had undergone early sex reassignment surgery (to evaluate the effects of early surgery for sex reassignment), 21 nontreated adolescents, and 6 adolescents in whom treatment had been delayed until adulthood (to evaluate the decision to deny initiation of sex reassignment altogether or at an early age). Individuals in the treated group (who had received sex-reassignment surgery) did not continue to have gender dysphoria, and they were thought to be psychologically and socially functioning quite well 1-4 years postoperatively. None of these individuals expressed regret over their decision to have the surgery. Although individuals in the nontreated group also showed improvement, they had a more dysfunctional psychological profile. Therefore, it is important to carefully screen individuals who are cleared for reassignment and treatment, especially if they are very young or it is felt that they may have made their decision too quickly and without careful thought.

De Cuypere et al. (2005) conducted a follow-up of 55 transsexual adult patients (both MTF and FTM) after sexual reassignment surgery. The purpose of this study was to evaluate the sexual and general health of patients following surgery. The researchers found that few and minor problems were observed in the patients and that most problems were reversible with appropriate treatment. MTF patients experienced more general health problems; the researchers stated that these problems might have been explained by smoking habits and older age. All patients reported that their expectations regarding the surgery were met on both a social and emotional level, but not so much on a physical and sexual level. Flowever, it is important to note that 80% reported improvement in their sexuality. The FTM patients reported an increase in masturbation and a trend toward more sexual excitement, satisfaction, and orgasm. The majority of patients reported a more powerful orgasmic feeling.

In a meta-analysis, Murad et al. (2010) identified 28 eligible studies examining satisfaction after sex reassignment. Although most of the studies did not have control groups and were observational, the results indicated that 80% of patients across studies reported significant improvement in gender dysphoria, 78% reported significant improvement in psychological symptoms, 80% reported significant improvement in the quality of life, and 72% reported significant improvement in sexual function. The meta-analysis also indicated that suicide attempts, despite remaining higher than the national average, decreased significantly following sex reassignment. Although in some studies patients indicated a worsening of psychological symptoms, these individuals appear to have been in the minority.

Conclusion

Since the last edition of this textbook, there have been a number of changes to the diagnostic criteria as well as to the name and categorization. In general, there are several recommendations for working with children, adolescents, and adults who present with what appears to be gender dysphoria. As always, a thorough assessment must be made regardless of whether the patient is a child, adolescent, or adult. This assessment should seek to identify co-morbid disorders, sources of interpersonal and intrapersonal distress, and the unique aspects of the individual's presentation. For children and adolescents, it is particularly important to understand the social and familial environment, although both factors could also be important for adults. Additionally, for children and adolescents, decisions about intervention should take into account the desires of the parents/caregivers, the best interests of the child, and the most up-to-date knowledge from the field. In the case of children, no decision should be made until the parents/caregivers have been provided with extensive education about the diversity of the possible courses of gender dysphoria in children as well as all available treatment options. The same is true for children who remain gender dysphoric into adolescence, where the likely course and, subsequently, the possible interventions, shift. Again, any decisions about intervention should be made based on input from professionals, parents/caregivers, and the adolescent; keeping in mind that different interventions will require consultation with additional experts. For adults who present with persistent gender dysphoria, it is important to provide the patient with information about all treatment options and outcomes. As research continues, we will hopefully see a better understanding of the etiology of gender dysphoria, refinement in the instruments and methods available for assessment, improvement in the implementation of interventions, and hopefully improved outcomes for individuals who seek the assistance of medical and mental health professionals. It is important for any psychiatrist to be knowledgeable about the research, to stay abreast of current trends, and to seek consultation from experts in the field (including endocrinologists, surgeons, etc.) when needed. Finally, individuals and families struggling with issues related to gender need to be provided with sensitive and compassionate care based on the best available professional knowledge and, at all times, treated with the utmost respect and dignity.

Key Clinical Points

 

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Zucker KJ, Bradley SJ: Gender Identity Disorder and Psychosexual Problems in Children and Adolescents. New York, Guilford, 1995

Zucker KJ, Lawrence AA: Epidemiology of gender identity disorder: recommendations for the standards of care of the world professional association for transgender health. International Journal of Transgenderism 11:8-18, 2009

Zucker KJ, Bradley SJ, Lowry Sullivan CB: Traits of separation anxiety in boys with gender identity disorder. J Am Acad Child Adolesc Psychiatry 35:791-798, 1996

Zucker KJ, Bradley SJ, Sanikhani M: Sex differences in referral rates of children with gender identity disorder: some hypotheses. J Abnorm Child Psychol 25:217-227, 1997a

Zucker KJ, Green R, Coates S, et al: Sibling sex ratio of boys with gender identity disorder. J Child Psychol Psychiatry 38:543-551, 1997b

Zucker KJ, Owen A, Bradley SJ, et al: Gender-dysphoric children and adolescents: a comparative analysis of demographic characteristics and behavioral problems. Clin Child Psychol Psychiatry 7:398-411, 2002

Zucker KJ, Wood H, Singh D, et al: A developmental, biopsychosocial model for the treatment of children with gender identity, disorder. J Homosex 59:369-397, 2012

Suggested Readings

Byne W, Bradley SJ, Coleman E, et al: Report of the American Psychiatric Association Task Force on Treatment of Gender Identity Disorder. Arch Sex Behav 41:759-796, 2012

Hembree WC, Cohen-Kettenis P, Delemarre-van de Waal HA: Endocrine treatment of transsexual persons: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 94:3132-3154, 2009

World Professional Association for Transgender Health: Standards of Care for the Health of Transsexual, Transgender, and Gender Nonconforming People, 7th Version. Minneapolis, MN, World Professional Association for Transgender Health, 2012